Parents, have you ever heard of osteogenesis imperfecta? This is a disease that often attacks bones. This disorder can attack children from birth.
Osteogenesis imperfecta also has many types with varying levels of symptoms caused. It is important to know more about this condition so that parents can also take the right steps if their little one experiences it.
Understanding Osteogenesis ImperfectaOsteogenesis imperfecta (OI) is a group of genetic disorders that primarily affect the bones. The term “osteogenesis imperfecta” itself means imperfect bone formation.
People with this condition have bones that break easily, often from minor trauma or without any obvious cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures throughout a person’s lifetime.
Types of Osteogenesis ImperfectaThere are at least 8 different types of osteogenesis imperfecta. The classification is based on the type of inheritance and the signs and symptoms. This includes findings on X-rays and other imaging tests. Here is an explanation of the types:
Type IThis type I OI bone disorder is the most common type and has the mildest symptoms. About 50% of all children with OI have this type. Some children with type I OI experience fractures and deformities or changes in bone structure that are visible on their bodies.
Type IIOnly one grade higher than the previous one, but osteogenesis imperfecta type II is the most severe type. Babies who have it will have very short arms and legs, a small chest, and a soft skull.
Not only that, your little one may also be born with fractured bones. He or she may also have low birth weight and underdeveloped lungs. Babies with OI type II usually die within a few weeks of birth.
Type IIIThis type of disease is also quite severe experienced by babies who survive and do not die at birth. When just born, the baby may have arms and legs that are slightly shorter than usual. Usually, the arms, legs, and ribs are also broken.
In addition, babies with this type of condition may have a larger than normal head, a triangular face, a deformed chest and spine, and breathing and swallowing problems. These symptoms can vary from baby to baby.
Type IVOsteogenesis imperfecta type IV has symptoms ranging from mild to severe. A baby with this condition can be diagnosed at birth. He or she may not experience bone fractures until he or she is crawling or walking. The arm and leg bones may not be straight. The baby also may not grow normally.
Type VOI type V is similar to type IV. The symptoms seen are also moderate to severe. Babies with this condition usually have enlarged thickenings (hypertrophic calluses) in the area where the large bone is broken.
Type VIBabies who experience this type of bone disorder are very rare compared to other types. The symptoms that appear are at a moderate level. It also tends to be similar to type IV.
Type VIIThis type VII may have similarities with type IV or type II. Usually babies who experience this have a shorter height than normal. In addition, he may also have upper arms and thigh bones that are shorter than normal.
Type VIIIThis eighth type is similar to osteogenesis imperfecta types II and III. Babies who have it may have very fragile bones. In addition, they will also experience many serious growth problems.
Causes of Osteogenesis ImperfectaThis bone disorder is inherited through genes. Different types of this disease are inherited in different ways. The gene can be inherited from one or both parents. Or the gene can be inherited from an unexplained change (spontaneous mutation) of a gene.
Most babies with OI have a defect in one of two genes. These genes help make collagen. Collagen is a major part of the connective tissue that connects and supports the entire body, including bones. Because of the defect, there is not enough collagen or the collagen is abnormal.
Symptoms of Osteogenesis ImperfectaParents may be concerned about their child’s condition and want to know if their child is experiencing symptoms of this disorder. Although OI symptoms vary greatly depending on the type, here are some common symptoms that may arise:
Bones are easily broken Bone deformities, such as bowed legs Change in the color of the white of the eye (sclera), may be blue or gray Part of the chest appears enlarged Curved spine Triangular shaped face Loose joints Muscle weakness Skin bruises easily Hearing loss in early adulthood Soft and discolored teethSymptoms of osteogenesis imperfecta may look like other medical conditions, so see your pediatrician regularly to get a proper diagnosis.
Risk FactorsThe biggest risk factor for this disease is heredity. If one parent has osteogenesis imperfecta, a child has a 50 percent chance of having the same condition.
The most common form of osteogenesis imperfecta is inherited and can usually be traced through families. Less common forms are passed on to children through recessive inheritance. When both parents carry the recessive gene for OI, there is a 25% (1 in 4) chance per pregnancy of having a child with the disease.
DiagnosisTo diagnose this condition in a baby, the doctor or other health care provider will first ask questions about your baby’s medical history, your family’s medical history, and your pregnancy. Then, he or she will examine your baby, looking for signs and symptoms of OI. Milder forms of OI can be difficult to diagnose in babies.
Your baby’s healthcare provider may refer you to a specialist with experience in diagnosing and treating OI. For example, your baby may be referred to a specialist in genetic conditions (geneticist) or bone disorders (orthopedist).
You may also be recommended the following diagnostic tests:
X-rays , to show changes in the body such as weak or deformed bones and fractures. Laboratory tests . Blood, saliva, and skin may be examined. Tests may include gene testing. Dual Energy X-ray Absorptiometry Scan (DXA or DEXA scan) . A bone scan to check for softening. Bone biopsy . A sample of the hip bone is examined. This test requires sleep medication (general anesthesia). How to Care for a Baby with Osteogenesis ImperfectaYour child’s healthcare provider will determine the most appropriate treatment based on:
Child age Overall health and medical history of the child How does the child feel pain? How well your child is handling certain medicines, treatments, or therapies Estimates of the child’s condition Your opinions and preferences as a parentThe main goal of treatment is to prevent deformities and fractures. That way, when your child gets older, he or she can function properly and live as independently as possible.
Treatment to prevent or treat the symptoms that arise are as follows:
Bisphosphonate treatment . These are medications that can help strengthen bones and prevent fractures. They can be used for most types of OI. They can be given by mouth or through an IV (intravenous line) into a child’s vein. Fracture treatment . This is done by using the lightest material to make the fractured bone. To prevent further problems, it is recommended that children who can move a lot to use it on the affected area as soon as possible. Orthopedic treatment . This includes bracing and splinting. Surgery may also be necessary. Rodding . This involves inserting a metal rod to help hold it in place (stabilize) and prevent deformity of the long bone. Dental procedures . Treatments, including tooth capping, braces, and surgery may be necessary. Physical and occupational therapy. Both are very important in infants and children with OI. Assistive devices. Wheelchairs and other specially made equipment may be needed as your baby gets older. Possible ComplicationsComplications can affect most body systems in infants or children with OI. The risk of complications depends on the type and severity of OI your baby has. Here are some other illnesses that may accompany:
Respiratory tract infections, such as pneumonia Heart problems such as poor heart valve function Kidney stones Hearing disorders Eye conditions and vision lossOsteogenesis imperfecta should not be ignored because symptoms that are not treated properly can actually make the child suffer even more. Hopefully this article is useful.
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Osteogenesis Imperfecta
https://www.hopkinsmedicine.org/health/conditions-and-diseases/osteogenesis-imperfecta#
Osteogenesis imperfecta
https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta/
Republished with permission from theAsianParent Indonesia